ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.2123T>C (p.Val708Ala) (rs148453565)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000766798 SCV000240779 uncertain significance not provided 2018-11-14 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the CNTNAP2 gene. The V708A variant has been reported as a rare heterozygous missense variant observed in a population of individuals with autism spectrum disorder; however, the authors found no significant association with autism risk (Murdoch et al. 2015). The V708A variant is observed in 140/23,992 (0.6%) alleles from individuals of African background in large population cohorts (Lek et al., 2016). The V708A variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, in-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Genetic Services Laboratory,University of Chicago RCV000187199 SCV000247056 uncertain significance not specified 2014-10-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000187199 SCV000336099 likely benign not specified 2015-11-02 criteria provided, single submitter clinical testing
Invitae RCV001085121 SCV000563245 likely benign Pitt-Hopkins-like syndrome 1 2019-12-31 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000515254 SCV000611462 uncertain significance Autism 15; Pitt-Hopkins-like syndrome 1 2017-05-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV000719722 SCV000850592 uncertain significance History of neurodevelopmental disorder 2019-02-26 criteria provided, single submitter clinical testing Insufficient evidence

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